Fig. 2: Mapping of structural variations using Hi-C reveals Diagnosis and Relapse-specific translocations.

a Hi-C contact matrix demonstrating relapse-specific translocation between chromosomes 16 and 22 in patient SJETV043 with faint signal visually detected at diagnosis (arrow). b Reconstructed Hi-C contact matrix presenting a diagnosis-specific translocation in patient PATJJX between chromosomes 5 and 9 at diagnosis and relapse (left and right respectively). c Reconstructed Hi-C contact matrix presenting a relapse-specific translocation in patient SJETV043 between chromosomes 14 and 17 at diagnosis and relapse (left and right respectively). Green dashed triangle highlights a NeoTAD. d Reconstructed Hi-C contact matrix demonstrating a relapse-specific NeoTAD (dashed green triangle). New contacts overlap region of ATAC peaks (purple tracks) and increased transcription at relapse (red tracks) overlapping the E2F4 locus (dashed blue triangle). e Bar plot showing upregulation of E2F4 transcripts at relapse in PASFIF.